Canonical Allele Identifier: CA2577770018

Gene: ARVCF

Linked Data

• gnomAD v4: 22-19972428-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972428G>C , CM000684.2:g.19972428G>C	GRCh38
NC_000022.10:g.19959951G>C , CM000684.1:g.19959951G>C	GRCh37
NC_000022.9:g.18339951G>C	NCBI36
NG_023326.1:g.49359C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2642-17C>G MANE Select	ENSP00000263207.3:n.2642-17C>G
ENST00000263207.7:c.2642-17C>G	ENSP00000263207.3:n.2642-17C>G
ENST00000401994.5:c.2453-17C>G	ENSP00000384341.1:n.2453-17C>G
ENST00000406259.1:c.2624-17C>G	ENSP00000385444.1:n.2624-17C>G
ENST00000406522.5:c.2435-17C>G	ENSP00000384732.1:n.2435-17C>G
ENST00000495096.5:n.1564-17C>G
NM_001670.2:c.2642-17C>G	NP_001661.1:n.2642-17C>G
XM_005261242.1:c.2624-17C>G	XP_005261299.1:n.2624-17C>G
XM_005261243.3:c.2624-17C>G	XP_005261300.1:n.2624-17C>G
XM_005261244.3:c.2624-17C>G	XP_005261301.1:n.2624-17C>G
XM_006724243.1:c.2642-17C>G	XP_006724306.1:n.2642-17C>G
XM_006724245.2:c.2642-17C>G	XP_006724308.1:n.2642-17C>G
XM_006724246.2:c.2396-17C>G	XP_006724309.1:n.2396-17C>G
XM_006724247.2:c.2453-17C>G	XP_006724310.1:n.2453-17C>G
XM_006724248.2:c.2435-17C>G	XP_006724311.1:n.2435-17C>G
XM_011530179.1:c.2609-17C>G	XP_011528481.1:n.2609-17C>G
XM_011530180.1:c.2642-17C>G	XP_011528482.1:n.2642-17C>G
XM_011530182.1:c.1208-17C>G	XP_011528484.1:n.1208-17C>G
XM_011530183.1:c.1190-17C>G	XP_011528485.1:n.1190-17C>G
XR_937863.1:n.2729-17C>G
XR_937864.1:n.2729-17C>G
XM_005261242.3:c.2624-17C>G	XP_005261299.1:n.2624-17C>G
XM_005261243.4:c.2624-17C>G	XP_005261300.1:n.2624-17C>G
XM_005261244.4:c.2624-17C>G	XP_005261301.1:n.2624-17C>G
XM_006724243.3:c.2642-17C>G	XP_006724306.1:n.2642-17C>G
XM_006724245.3:c.2642-17C>G	XP_006724308.1:n.2642-17C>G
XM_006724246.4:c.2396-17C>G	XP_006724309.1:n.2396-17C>G
XM_006724247.4:c.2453-17C>G	XP_006724310.1:n.2453-17C>G
XM_006724248.4:c.2435-17C>G	XP_006724311.1:n.2435-17C>G
XM_011530179.3:c.2609-17C>G	XP_011528481.1:n.2609-17C>G
XM_011530182.3:c.1208-17C>G	XP_011528484.1:n.1208-17C>G
XM_011530183.3:c.1190-17C>G	XP_011528485.1:n.1190-17C>G
XM_024452249.1:c.2396-17C>G	XP_024308017.1:n.2396-17C>G
XR_937863.2:n.2729-17C>G
NM_001670.3:c.2642-17C>G MANE Select	NP_001661.1:n.2642-17C>G